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Huntington's disease is inherited as an autosomal dominant disease that gives rise to
progressive, elective (localized) neural cell death associated with choreic movements
(uncontrollable movements of the arms, legs, and face) and dementia. It is one of the
more common inherited brain disorders. About 25,000 Americans have it and another
60,000 or so will carry the defective gene and will develop the disorder as they age.
Physical deterioration occurs over a period of 10 to 20 years, usually beginning in a
person's 30's or 40's. The gene is dominant and thus does not skip generations.
Having the gene means a 92 percent chance of getting the disease. The disease is
associated with increases in the length of a CAG triplet repeat present in a gene
called 'huntington' located on chromosome 4. The classic signs of Huntington disease
are progressive chorea, rigidity, and dementia, frequently associated with seizures.
Studies & Research
Studies were done to determine if somatic mtDNA (mitochondria DNA) mutations might
contribute to the neurodegeneration observed in Huntington's disease. Part of the
research was to analyze cerebral deletion levels in the temporal and frontal lobes.
Research hypothesis: HD patients have significantly higher mtDNA deletionlevels than
agematched controls in the frontal and temporal lobes of the cortex...